Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_provenance.
- NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_assertion description "[A novel p.Trp94X mutation in RDS was found in all three affected members of a two-generation family that was associated with retinitis pigmentosa in the son, pattern dystrophy in the daughter and fundus flavimaculatus in the mother.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_provenance.
- NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_assertion evidence source_evidence_literature NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_provenance.
- NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_assertion SIO_000772 16916875 NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_provenance.
- NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_assertion wasDerivedFrom befree-20140225 NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_provenance.
- NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_assertion wasGeneratedBy ECO_0000203 NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_provenance.
- befree-20140225 importedOn "2014-02-25" NP434077.RAcicIK4jR276wE6rnjC7ayyI9vyf8OHTluyRohNg3Los130_provenance.